The role ofSRY as the primary testis-determining gene has been known for 25 years, following transgenic mouse studies as well as the discovery of duplication ofSRY in individuals with 46,XX testicular disorders of sex development (DSD) or disruption ofSRY in 46,XY testicular dysgenesis (Bashambooet al., 2017;Koopmanet al., 2016;Svingen & Koopman, 2013).SRY is believed to undergo a transient wave of expression in the developing testis that regulates transcription of downstream factors such asSOX9 and initiates testis development pathways (Hiramatsuet al., 2009). Here, SRY is linked to disorder of sexual differentiation.